Condition: Hereditary hemochromatosis


rs1799945 in LOC108783645;HFE gene and Hereditary hemochromatosis PMID 11358905 2001 Additionally, we sequenced the HFE gene of H63D homozygotes with HH.

PMID 9162021 1997 The hemochromatosis founder mutation in HLA-H disrupts beta2-microglobulin interaction and cell surface expression.

PMID 11479183 2001 HFE gene and hereditary hemochromatosis: a HuGE review. Human Genome Epidemiology.

PMID 8696333 1996 A novel MHC class I-like gene is mutated in patients with hereditary haemochromatosis.

PMID 11874997 2002 A population-based study of the biochemical and clinical expression of the H63D hemochromatosis mutation.

PMID 11399207 2008 Contribution of different HFE genotypes to iron overload disease: a pooled analysis.

PMID 12429850 2002 The hemochromatosis protein HFE inhibits iron export from macrophages.

PMID 16132052 2005 The molecular genetics of haemochromatosis.

PMID 26365338 2015 Penetrance of Hemochromatosis in HFE Genotypes Resulting in p.Cys282Tyr and p.[Cys282Tyr];[His63Asp] in the eMERGE Network.

PMID 9356458 1997 Hereditary hemochromatosis: effects of C282Y and H63D mutations on association with beta2-microglobulin, intracellular processing, and cell surface expression of the HFE protein in COS-7 cells.

PMID 24729993 2014 Iron overload is rare in patients homozygous for the H63D mutation.

PMID 19554541 2009 HFE C282Y/H63D compound heterozygotes are at low risk of hemochromatosis-related morbidity.

PMID 14673107 2003 Contribution of the H63D mutation in HFE to murine hereditary hemochromatosis.

PMID 26153218 2016 EMQN best practice guidelines for the molecular genetic diagnosis of hereditary hemochromatosis (HH).

rs3811647 in TF gene and Hereditary hemochromatosis PMID 25457201 2015 Genome-wide association study identifies TF as a significant modifier gene of iron metabolism in HFE hemochromatosis.

rs750609759 in TFR2 gene and Hereditary hemochromatosis PMID 23600741 2013 Variable age of onset and clinical severity in transferrin receptor 2 related haemochromatosis: novel observations.

PMID 26029709 2015 Functional consequences of transferrin receptor-2 mutations causing hereditary hemochromatosis type 3.

PMID 26408288 2015 Transferrin receptor 2 mutations in patients with juvenile hemochromatosis phenotype.